title: Alpha-1-antitrypsin deficiency in a large sibship.
abstract: We studied alpha 1-antitrypsin deficiency in a large family of 10 siblings: 3 subjects had PiZZ phenotype, but only 1 had emphysema; 2 subjects had no respiratory complaint. The patient with emphysema was a heavy smoker. According to the literature, this case suggests that, in PiZZ phenotype, emphysema appears earlier and is more severe if the patients smoke.
authors.affiliation: Laboratoire d'Explorations Fonctionnelles Respiratoires, Strasbourg, France.
authors.forename: M
authors.initials: M
authors.lastname: Apprill
authors.forename: M L
authors.initials: ML
authors.lastname: North
authors.forename: R
authors.initials: R
authors.lastname: Mirhom
authors.forename: E
authors.initials: E
authors.lastname: Weitzenblum
mesh_terms: D000328:Adult; D003241:Consanguinity; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000201:enzymology / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin